Article
A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia.
The Journal of biological chemistry - 16 Jun 1995
Ricci B, Sharp D, O'Rourke E, Kienzle B, Blinderman L, Gordon D, Smith-Monroy C, Robinson G, Gregg R E, Rader D J
Abstract excerpt
The microsomal triglyceride transfer protein (MTP) is a heterodimer composed of the multifunctional enzyme, protein disulfide-isomerase, and a unique large, 97 kDa, subunit. It is found as a soluble protein within the lumen of the endoplasmic reticulum of liver and intestine and is required for the assembly of very low density lipoproteins and chylomicrons. Mutations in MTP which result in an absence of MTP...
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